Delineation of the clinical profile of CNOT2-related disorder and review of the phenotype of 12q15 microdeletion syndrome

被引：0

作者：

Niceta, Marcello ^{[1
,2
]}

Inzana, Francesca ^{[3
]}

Peron, Angela ^{[4
,5
]}

Bakhtiari, Somayeh ^{[6
,7
,8
,9
,10
]}

Nizon, Mathilde ^{[11
]}

Levy, Jonathan ^{[12
]}

Ferrer, Alejandro ^{[13
]}

Pizzi, Simone

Mancini, Cecilia

Radio, Francesca Clementina ^{[1
]}

Agolini, Emanuele ^{[14
]}

Cocciadiferro, Dario ^{[14
]}

Salih, Mustafa A. ^{[15
]}

Recalcati, Maria Paola ^{[16
]}

Arancio, Rosangela ^{[17
]}

Besnard, Marianne ^{[18
]}

Tabet, Anne-Claude ^{[19
,20
]}

Kruer, Michael C. ^{[6
]}

Novelli, Antonio ^{[14
]}

Dallapiccola, Bruno ^{[1
]}

Tartaglia, Marco ^{[1
]}

机构：

[1] Bambino Gesu Pediat Hosp, IRCCS, Genet & Rare Dis, Rome, Italy

[2] Sapienza Univ, Dept Pediat, Rome, Italy

[3] Reg Hosp Bolzano, Genet Counseling Serv, Bolzano, Italy

[4] ASST Santi Paolo & Carlo, Osped San Paolo, Med Genet, Milan, Italy

[5] Univ Utah, Div Med Genet, Dept Pediat, Salt Lake City, UT USA

[6] Phoenix Childrens Hosp, Barrow Neurol Inst, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ USA

[7] Univ Arizona, Coll Med Phoenix, Dept Child Hlth, Phoenix, AZ USA

[8] Univ Arizona, Coll Med Phoenix, Dept Neurol & Cellular, Phoenix, AZ USA

[9] Univ Arizona, Coll Med Phoenix, Dept Mol Med, Phoenix, AZ USA

[10] Univ Arizona, Coll Med Phoenix, Genet Program, Phoenix, AZ USA

[11] Univ Nantes, CNRS, CHU Nantes, Linst thorax,Serv Genet Med,INSERM, Nantes, France

[12] Robert Debre Univ Hosp, AP HP, Dept Genet, Paris, France

[13] Mayo Clin, Div Hematol, Rochester, MN USA

[14] Bambino Gesu Pediat Hosp, Translat Cytogen Res Unit, IRCCS, Rome, Italy

[15] King Saud Univ KFSHRC, Neurol Div, Dept Pediat, Coll Med, Riyadh, Saudi Arabia

[16] Ist Auxol Italiano IRCCS, Med Cytogenet Lab, Cusano Milanino, Italy

[17] Osped San Paolo, Clin Pediat, ASST Santi Paolo Carlo, Milan, Italy

[18] Ctr Hosp Polynesie Francaise, Dept Neonatol, Papeete, French Polynesi, France

[19] Inst Pasteur, Human Genet & Cognit Funct, Paris, France

[20] Robert Debre Hosp, Genet Dept, Cytogenet Unit, Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

EP12.065

引用

页码：237 / 238

页数：2

共 48 条

[1] CNOT2 IS PHENOCRITICAL FOR 12Q15 MICRODELETION SYNDROME
Rodrigues, Raquel
Soeiro-Sa, Mariana
Sousa, Ana
Sousa, Ana Berta
MEDICINE, 2022, 101 (30)
[2] CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome
Uehara, T.
Suzuki, H.
Yamada, M.
Takenouchi, T.
Kosaki, K.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1375 - 1376
[3] CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome
Uehara, Tomoko
Takenouchi, Toshiki
Yamaguchi, Yu
Daimon, Yumi
Suzuki, Hisato
Sakaguchi, Yuri
Kosaki, Kenjiro
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 659 - 662
[4] A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome
Alesi, Viola
Loddo, Sara
Cali, Federica
Orlando, Valeria
Genovese, Silvia
Ferretti, Daniele
Calacci, Chiara
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Falasca, Roberto
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Dallapiccola, Bruno
Baban, Anwar
Novelli, Antonio
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (08) : 1615 - 1621
[5] 19q13.32 microdeletion syndrome further delineation of the clinical phenotype
Van Zutven, Laura
Van Ravenswaaij-Arts, Conny
Dijkhuizen, Trijnie
Mcgregor-Schuerman, Magda
Van Bever, Yolande
Srebniak, Malgorzata
MOLECULAR CYTOGENETICS, 2019, 12
[6] Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype
Niceta, Marcello
Pizzi, Simone
Inzana, Francesca
Peron, Angela
Bakhtiari, Somayeh
Nizon, Mathilde
Levy, Jonathan
Mancini, Cecilia
Cogne, Benjamin
Radio, Francesca Clementina
Agolini, Emanuele
Cocciadiferro, Dario
Novelli, Antonio
Salih, Mustafa A.
Recalcati, Maria Paola
Arancio, Rosangela
Besnard, Marianne
Tabet, Anne-Claude
Kruer, Michael C.
Priolo, Manuela
Dallapiccola, Bruno
Tartaglia, Marco
CLINICAL GENETICS, 2023, 103 (02) : 156 - 166
[7] Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Mefford, Heather C.
Rosenfeld, Jill A.
Shur, Natasha
Slavotinek, Anne M.
Cox, Victoria A.
Hennekam, Raoul C.
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Silva, Joao
Lamb, Allen
Eichler, Evan E.
JOURNAL OF MEDICAL GENETICS, 2012, 49 (02) : 110 - 118
[8] Minimal Clinical Findings in a Patient With 15qter Microdeletion Syndrome: Delineation of the Associated Phenotype
Jezela-Stanek, Aleksandra
Kucharczyk, Marzena
Pelc, Magdalena
Chrzanowska, Krystyna H.
Krajewska-Walasek, Malgorzata
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 922 - 926
[9] 2q31.1 microdeletion syndrome: mapping the clinical phenotype
Rodrigues, Raquel
Santos, Rosario
Custodio, Sonia
Dupont, Juliette
Moldovan, Oana
Travessa, Andre
Soares, Marta
Macedo, Antonio
Sousa, Ana
Sousa, Ana Berta
MEDICINE, 2020, 99 (09)
[10] The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Bregje WM van Bon
David A Koolen
Louise Brueton
Dominic McMullan
Klaske D Lichtenbelt
Lesley C Adès
Gregory Peters
Kate Gibson
Francesca Novara
Tiziano Pramparo
Bernardo Dalla Bernardina
Leonardo Zoccante
Umberto Balottin
Fausta Piazza
Vanna Pecile
Paolo Gasparini
Veronica Guerci
Marleen Kets
Rolph Pfundt
Arjan P de Brouwer
Joris A Veltman
Nicole de Leeuw
Meredith Wilson
Jayne Antony
Santina Reitano
Daniela Luciano
Marco Fichera
Corrado Romano
Han G Brunner
Orsetta Zuffardi
Bert BA de Vries
European Journal of Human Genetics, 2010, 18 : 163 - 170

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